title: GLUT1 deficiency syndrome in clinical practice.
abstract: GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments.
authors.affiliation: Childrens' Hospital Aschaffenburg, Am Hasenkopf, D-63739 Aschaffenburg, Germany. joerg.klepper@klinikum-aschaffenburg.de
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy*; D055423:Diet, Ketogenic; D004827:Epilepsy / Q000178:diet therapy*; D005947:Glucose / Q000378:metabolism; D051272:Glucose Transporter Type 1 / Q000172:deficiency / Q000378:metabolism*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; D005947:Glucose